Scientific background: |
Fibroblast growth factor receptor 3, also known as CD333, is a protein that in humans is encoded by the FGFR3 gene. This gene encodes a member of the fibroblast growth factor receptor (FGFR) family, with its amino acid sequence being highly conserved between members and among divergent species. The FGFR3 gene is mapped to the HD region on chromosome 4p16.3. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member binds acidic and basic fibroblast growth hormone and plays a role in bone development and maintenance. Mutations in this gene lead to craniosynostosis and multiple types of skeletal dysplasia. |
References: |
1. Almeida, M. R., Campos-Xavier, A. B., Medeira, A., Cordeiro, I., Sousa, A. B., Lima, M., Soares, G., Rocha, M., Saraiva, J., Ramos, L., Sousa, S., Marcelino, J. P., Correia, A., Santos, H. G. Clinical and molecular diagnosis of the skeletal dysplasias associated with mutations in the gene encoding fibroblast growth factor receptor 3 (FGFR3) in Portugal. Clin. Genet. 75: 150-156, 2009.
2. Barroso, E., Perez-Carrizosa, V., Garcia-Recuero, I., Glucksman, M. J., Wilkie, A. O., Garcia-Minaur, S., Heath, K. E. Mild isolated craniosynostosis due to a novel FGFR3 mutation, p.Ala334Thr. Am. J. Med. Genet. 155A: 3050-3053, 2011.
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